Álvaro-Sánchez, SaraAbreu-Rodríguez, IreneAbulí, AnnaSerra Juhé, Clara, 1984-Garrido-Navas, Maria del Carmen2022-09-022022-09-022021Álvaro-Sánchez S, Abreu-Rodríguez I, Abulí A, Serra-Juhe C, Garrido-Navas MDC. Current status of genetic counselling for rare diseases in Spain. Diagnostics (Basel). 2021 Dec 9;11(12):2320. DOI: 10.3390/diagnostics111223202075-4418http://hdl.handle.net/10230/53979Genetic Counselling is essential for providing personalised information and support to patients with Rare Diseases (RD). Unlike most other developed countries, Spain does not recognize geneticists or genetic counsellors as healthcare professionals Thus, patients with RD face not only challenges associated with their own disease but also deal with lack of knowledge, uncertainty, and other psychosocial issues arising as a consequence of diagnostic delay. In this review, we highlight the importance of genetic counsellors in the field of RD as well as evaluate the current situation in which rare disease patients receive genetic services in Spain. We describe the main units and strategies at the national level assisting patients with RD and we conclude with a series of future perspectives and unmet needs that Spain should overcome to improve the management of patients with RD.application/pdfeng© 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).info:eu-repo/semantics/articlehttp://dx.doi.org/10.3390/diagnostics11122320Genetic counsellingProfessional recognitionRare diseasesinfo:eu-repo/semantics/openAccess